Canonical Allele Identifier: CA1308832576
Community Standard Title: NM_000079.4(CHRNA1):c.821C= (p.Thr274=)
Gene: CHRNA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174750127G= , CM000664.2:g.174750127G= GRCh38
NC_000002.11:g.175614855G= , CM000664.1:g.175614855G= GRCh37
NC_000002.10:g.175323101G= NCBI36
NG_008172.1:g.19346C=

Transcript Alleles

HGVS Amino-acid Change
NM_000079.4:c.821C= MANE Select NP_000070.1:p.Thr274=
ENST00000348749.9:c.821C= MANE Select ENSP00000261008.5:p.Thr274=
NM_000079.3:c.821C= NP_000070.1:p.Thr274=
NM_001039523.2:c.896C= NP_001034612.1:p.Thr299=
NM_001039523.3:c.896C= NP_001034612.1:p.Thr299=
ENST00000261007.9:c.896C= ENSP00000261007.5:p.Thr299=
ENST00000409219.5:c.821C= ENSP00000386611.1:p.Thr274=
ENST00000409542.5:c.575C= ENSP00000387026.1:p.Thr192=
ENST00000435083.5:c.*465C= ENSP00000395805.1:n.*465C=
ENST00000636168.2:c.332C= ENSP00000490338.2:p.Thr111=
ENST00000672640.1:c.332C= ENSP00000500507.1:p.Thr111=
XM_017003256.1:c.917C= XP_016858745.1:p.Thr306=
XM_017003257.1:c.842C= XP_016858746.1:p.Thr281=